# Complement Dysregulation in Infancy: A Case of CD59 Deficiency With Neurological Sequelae

## TL;DR

A rare genetic disorder causing neurological and blood issues in infants is highlighted, emphasizing the need for early diagnosis to prevent severe complications.

## Contribution

The paper presents a case of CD59 deficiency in an infant with neurological and hemolytic symptoms, emphasizing the importance of early diagnosis.

## Key findings

- CD59 deficiency was identified in a two-year-old girl with hypotonia, stroke, and hemolytic anemia.
- Despite treatment, the patient developed persistent neurological deficits and failure to thrive.
- Early diagnosis and complement inhibition may help reduce complications in CD59 deficiency.

## Abstract

CD59 deficiency is a rare autosomal recessive disorder causing complement-mediated hemolysis, strokes, and neuropathy. Early recognition is critical to avoid irreversible complications. We report a two-year-old girl, born to consanguineous parents, who presented with recurrent hypotonia, motor regression, ischemic stroke, and Coombs-negative hemolytic anemia. Whole exome sequencing confirmed a homozygous CD59 mutation (c.323C>A; p.Ser108). She was treated with immune-moderating therapy and anticoagulants with a rehabilitation program. Despite therapy, she developed persistent neurological deficits and failure to thrive. CD59 deficiency should be considered in infants with unexplained hypotonia, stroke, and hemolytic anemia. Early diagnosis and complement inhibition may reduce complications.